BRI3: Brain Protein I3 – Gene Overview and Biomedical Significance
Comprehensive gene card, expression, mutations, and disease associations for BRI3
Gene Information Card
| Symbol | BRI3 |
|---|---|
| Full Name | Brain protein I3 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 25798 ncbi.nlm.nih.gov/gene/25798 |
| Ensembl ID | ENSG00000106462 |
| UniProt ID | Q9BXF6 |
| OMIM ID | 608938 |
| HGNC ID | 1102 |
| Aliases | BRI3, bA370P15.1, MGC129935 |
Description
BRI3 (brain protein I3) is a protein-coding gene located on chromosome 7q21.3. It encodes a 267-amino acid protein with a predicted molecular weight of 30.5 kDa. The protein is involved in cellular processes including apoptosis and cell cycle regulation. BRI3 is expressed in multiple tissues, with highest levels in brain and testis. Mutations and altered expression have been associated with various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Potential involvement in amyloid-beta toxicity; BRI3 may modulate neuronal survival | PMID: 14517240 |
| Glioblastoma | Overexpression linked to tumor progression and poor prognosis | PMID: 25691885 |
| Colorectal cancer | Upregulation associated with metastasis and chemoresistance | PMID: 29348627 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 6.8 | Embryonic kidney |
| HeLa | 4.5 | Cervical carcinoma |
| A549 | 3.9 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236C>T (p.Pro79Leu) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Predicted damaging (SIFT) |
| c.601_603del (p.Lys201del) | In-frame deletion | <0.01% | Alters protein structure |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • negative regulation of apoptotic process (GO:0043066) |
| • apoptotic process (GO:0006915) |
Pathways
• Apoptosis – modulation of cell death
• p53 signaling pathway – indirect involvement
Protein Summary
The BRI3 protein (UniProt Q9BXF6) is a 267-amino acid, 30.5 kDa cytoplasmic protein. It contains a conserved domain of unknown function (DUF). BRI3 is implicated in the negative regulation of apoptosis and may interact with p53 pathway components. Its expression is enriched in brain and testis, and dysregulation is observed in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRI3 Knockout HEK293 Cell Line | EDJ-KQ7536 | Human | 25798 | Details Get a Quote |
| BRI3BP Knockout HEK293 Cell Line | EDJ-KQ9800 | Human | 140707 | Details Get a Quote |
| BRI3 Knockout A-549 Cell Line | EDJ-KQ34135 | Human | 25798 | Details Get a Quote |
| BRI3 Knockout HCT 116 Cell Line | EDJ-KQ34137 | Human | 25798 | Details Get a Quote |
| BRI3 Knockout HeLa Cell Line | EDJ-KQ34138 | Human | 25798 | Details Get a Quote |
| BRI3BP Knockout A-549 Cell Line | EDJ-KQ36645 | Human | 140707 | Details Get a Quote |
| BRI3BP Knockout HCT 116 Cell Line | EDJ-KQ36646 | Human | 140707 | Details Get a Quote |
| BRI3BP Knockout HeLa Cell Line | EDJ-KQ36647 | Human | 140707 | Details Get a Quote |
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